Incidental Mutation 'IGL01946:Fbxw7'
ID 180957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw7
Ensembl Gene ENSMUSG00000028086
Gene Name F-box and WD-40 domain protein 7
Synonyms Fbxw6, 1110001A17Rik, Cdc4, SEL-10, Fbxo30, AGO, Fbw7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01946
Quality Score
Status
Chromosome 3
Chromosomal Location 84722575-84886505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84811369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 165 (Y165H)
Ref Sequence ENSEMBL: ENSMUSP00000103306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107678] [ENSMUST00000107679] [ENSMUST00000154148]
AlphaFold Q8VBV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000107678
AA Change: Y165H

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103305
Gene: ENSMUSG00000028086
AA Change: Y165H

DomainStartEndE-ValueType
coiled coil region 94 129 N/A INTRINSIC
low complexity region 220 227 N/A INTRINSIC
FBOX 287 327 3.7e-8 SMART
WD40 372 410 3.14e-6 SMART
WD40 413 450 2.1e-7 SMART
WD40 453 490 7.55e-9 SMART
WD40 493 530 2.22e-6 SMART
WD40 533 570 1.07e-8 SMART
WD40 573 610 1.75e-4 SMART
WD40 613 653 2.32e-9 SMART
WD40 656 704 2.37e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107679
AA Change: Y165H

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103306
Gene: ENSMUSG00000028086
AA Change: Y165H

DomainStartEndE-ValueType
coiled coil region 94 129 N/A INTRINSIC
low complexity region 220 227 N/A INTRINSIC
FBOX 287 327 3.7e-8 SMART
WD40 372 410 3.14e-6 SMART
WD40 413 450 2.1e-7 SMART
WD40 453 490 7.55e-9 SMART
WD40 493 530 2.22e-6 SMART
WD40 533 570 1.07e-8 SMART
WD40 573 610 1.75e-4 SMART
WD40 613 653 2.32e-9 SMART
WD40 656 704 2.37e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151410
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212597
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous inactivation of this locus disrupts embryonic and extraembryonic vasculature, resulting in death by midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,547,442 (GRCm39) E343K possibly damaging Het
Abcc9 T C 6: 142,571,763 (GRCm39) I1087V probably benign Het
Bcam A C 7: 19,494,042 (GRCm39) Y416* probably null Het
Bhlhe22 T A 3: 18,109,960 (GRCm39) C337S probably damaging Het
Cerkl T C 2: 79,223,364 (GRCm39) D119G probably benign Het
Cog6 T C 3: 52,909,825 (GRCm39) probably benign Het
Dchs1 T C 7: 105,408,312 (GRCm39) D1840G probably damaging Het
Dhx16 G T 17: 36,196,396 (GRCm39) M521I probably benign Het
Dnaja2 A G 8: 86,273,329 (GRCm39) I196T probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3371 A G 14: 44,646,178 (GRCm39) Y96H probably damaging Het
H2-T10 G A 17: 36,431,608 (GRCm39) A82V possibly damaging Het
Hydin A G 8: 111,217,350 (GRCm39) T1413A possibly damaging Het
Krt23 T A 11: 99,383,665 (GRCm39) M76L possibly damaging Het
Lipe A T 7: 25,082,701 (GRCm39) M504K possibly damaging Het
Lrrc37 T A 11: 103,503,759 (GRCm39) R560S probably benign Het
Lta4h T A 10: 93,307,232 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,877,522 (GRCm39) T348A probably damaging Het
Mybpc2 C A 7: 44,159,322 (GRCm39) probably benign Het
Or51r1 T C 7: 102,227,734 (GRCm39) probably null Het
Or52r1b T A 7: 102,691,357 (GRCm39) S219T probably damaging Het
Pdp2 G A 8: 105,320,824 (GRCm39) M224I probably benign Het
Pimreg C T 11: 71,935,804 (GRCm39) probably benign Het
Pld1 A T 3: 28,178,766 (GRCm39) S887C probably damaging Het
Ppp1r3g G A 13: 36,152,978 (GRCm39) A133T possibly damaging Het
Prpf8 G A 11: 75,390,818 (GRCm39) G1323D probably damaging Het
Rab3ip A G 10: 116,773,300 (GRCm39) probably null Het
Rpain A G 11: 70,861,358 (GRCm39) H9R possibly damaging Het
Scin T C 12: 40,110,490 (GRCm39) probably benign Het
Serpinb6d A G 13: 33,855,369 (GRCm39) T348A probably benign Het
Smad3 A G 9: 63,664,835 (GRCm39) L42P probably damaging Het
Smr3a C T 5: 88,156,014 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r13 G A 5: 109,322,085 (GRCm39) T204I probably benign Het
Zfhx3 A G 8: 109,660,561 (GRCm39) N1272D probably damaging Het
Other mutations in Fbxw7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Fbxw7 APN 3 84,876,616 (GRCm39) intron probably benign
IGL01468:Fbxw7 APN 3 84,879,806 (GRCm39) missense probably benign 0.21
IGL02248:Fbxw7 APN 3 84,810,940 (GRCm39) missense possibly damaging 0.94
IGL02630:Fbxw7 APN 3 84,872,586 (GRCm39) missense probably damaging 1.00
IGL02957:Fbxw7 APN 3 84,883,544 (GRCm39) missense probably benign 0.00
PIT4453001:Fbxw7 UTSW 3 84,872,621 (GRCm39) missense
R0043:Fbxw7 UTSW 3 84,879,874 (GRCm39) intron probably benign
R0312:Fbxw7 UTSW 3 84,874,876 (GRCm39) intron probably benign
R0595:Fbxw7 UTSW 3 84,884,674 (GRCm39) splice site probably null
R1664:Fbxw7 UTSW 3 84,876,478 (GRCm39) missense possibly damaging 0.45
R1709:Fbxw7 UTSW 3 84,883,659 (GRCm39) missense probably damaging 1.00
R1782:Fbxw7 UTSW 3 84,811,126 (GRCm39) missense probably benign
R1974:Fbxw7 UTSW 3 84,862,242 (GRCm39) missense possibly damaging 0.53
R2081:Fbxw7 UTSW 3 84,881,820 (GRCm39) missense probably damaging 1.00
R2843:Fbxw7 UTSW 3 84,883,527 (GRCm39) missense probably damaging 1.00
R3732:Fbxw7 UTSW 3 84,833,014 (GRCm39) missense possibly damaging 0.72
R3732:Fbxw7 UTSW 3 84,833,014 (GRCm39) missense possibly damaging 0.72
R3733:Fbxw7 UTSW 3 84,833,014 (GRCm39) missense possibly damaging 0.72
R4333:Fbxw7 UTSW 3 84,879,802 (GRCm39) missense probably damaging 1.00
R4335:Fbxw7 UTSW 3 84,879,802 (GRCm39) missense probably damaging 1.00
R4581:Fbxw7 UTSW 3 84,874,852 (GRCm39) missense probably benign 0.41
R4776:Fbxw7 UTSW 3 84,832,996 (GRCm39) missense possibly damaging 0.53
R4799:Fbxw7 UTSW 3 84,811,168 (GRCm39) nonsense probably null
R4822:Fbxw7 UTSW 3 84,874,814 (GRCm39) missense possibly damaging 0.94
R5512:Fbxw7 UTSW 3 84,862,216 (GRCm39) missense probably damaging 0.99
R5601:Fbxw7 UTSW 3 84,883,515 (GRCm39) missense probably damaging 1.00
R5679:Fbxw7 UTSW 3 84,884,794 (GRCm39) missense probably damaging 1.00
R6026:Fbxw7 UTSW 3 84,859,948 (GRCm39) critical splice donor site probably null
R6182:Fbxw7 UTSW 3 84,723,078 (GRCm39) critical splice donor site probably null
R6219:Fbxw7 UTSW 3 84,876,520 (GRCm39) missense probably damaging 0.99
R6305:Fbxw7 UTSW 3 84,883,630 (GRCm39) missense probably damaging 1.00
R6473:Fbxw7 UTSW 3 84,859,687 (GRCm39) intron probably benign
R6823:Fbxw7 UTSW 3 84,865,934 (GRCm39) missense probably benign 0.33
R6922:Fbxw7 UTSW 3 84,879,723 (GRCm39) splice site probably null
R7163:Fbxw7 UTSW 3 84,832,892 (GRCm39) intron probably benign
R7229:Fbxw7 UTSW 3 84,884,676 (GRCm39) missense unknown
R7554:Fbxw7 UTSW 3 84,883,620 (GRCm39) missense
R7677:Fbxw7 UTSW 3 84,811,373 (GRCm39) missense
R7711:Fbxw7 UTSW 3 84,832,988 (GRCm39) missense probably benign
R7713:Fbxw7 UTSW 3 84,874,872 (GRCm39) critical splice donor site probably null
R7873:Fbxw7 UTSW 3 84,833,071 (GRCm39) missense possibly damaging 0.53
R8319:Fbxw7 UTSW 3 84,881,859 (GRCm39) missense
R8712:Fbxw7 UTSW 3 84,859,684 (GRCm39) missense unknown
R8802:Fbxw7 UTSW 3 84,859,693 (GRCm39) missense unknown
R8805:Fbxw7 UTSW 3 84,862,227 (GRCm39) missense
R8887:Fbxw7 UTSW 3 84,876,549 (GRCm39) missense
R8905:Fbxw7 UTSW 3 84,872,634 (GRCm39) missense possibly damaging 0.89
R9358:Fbxw7 UTSW 3 84,883,561 (GRCm39) missense
Posted On 2014-05-07